A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.

Ana WestenbergerCharles Jourdan ReyesGerard SaranzaValerija DobricicHenrike HanssenAloysius DomingoBjörn-Hergen LaabsSusen SchaakeJelena PozojevicAleksandar RakovicKaren GrützKimberly BegemannUwe WalterDirk DresslerPeter BauerArndt RolfsAlexander MünchauFrank J KaiserLaurie J OzeliusRoland Dominic JamoraRaymond L RosalesCid Czarina E DiestaKatja LohmannInke Regina König Norbert BrüggemannChristine Klein

Published in: Annals of neurology (2019)

The hexanucleotide repeat within the SVA insertion acts as a genetic modifier of disease expressivity in XDP. RN-dependent TAF1 repression and subsequent differences in TAF1 mRNA levels in patients may be potentiated in the brain through somatic variability leading to the neurological phenotype. ANN NEUROL 2019;85:812-822.

Keyphrases

copy number
deep brain stimulation
parkinson disease
early onset
cerebral ischemia
white matter
genome wide
resting state
drug induced
neural network
binding protein
multiple sclerosis